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γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis
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scholarly article
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stated in
PubMed
title
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis
(English)
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stated in
PubMed
main subject
pathogenesis
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based on heuristic
inferred from title
hidradenitis suppurativa
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based on heuristic
inferred from title
author name string
Andrew E. Pink
series ordinal
1
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Michael A. Simpson
series ordinal
2
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Nemesha Desai
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3
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Richard C. Trembath
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4
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Jonathan N.W. Barker
series ordinal
5
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language of work or name
English
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publication date
March 2013
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stated in
PubMed
published in
Journal of Investigative Dermatology
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stated in
PubMed
volume
133
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PubMed
issue
3
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PubMed
page(s)
601-7
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PubMed
cites work
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
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inferred from DOI database lookup
Immunohistochemical localization of IL-1 alpha-, IL-1 beta-, IL-6- and TNF-alpha-like immunoreactivities in human apocrine glands
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
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inferred from DOI database lookup
Hidradenitis suppurativa: a comprehensive review
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reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
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7 January 2021
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inferred from DOI database lookup
gamma-secretases: from cell biology to therapeutic strategies
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hidradenitis suppurativa or acne inversa. A clinicopathological study of early lesions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nicastrin interacts with gamma-secretase complex components via the N-terminal part of its transmembrane domain
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
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7 January 2021
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Glu(332) in the Nicastrin ectodomain is essential for gamma-secretase complex maturation but not for its activity
1 reference
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reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
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Nicastrin binds to membrane-tethered Notch
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reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
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inferred from DOI database lookup
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice
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reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
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7 January 2021
based on heuristic
inferred from DOI database lookup
Pregnancy and apocrine gland diseases: hidradenitis, Fox-Fordyce disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Syntenin mediates Delta1-induced cohesiveness of epidermal stem cells in culture
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
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inferred from DOI database lookup
A family study of hidradenitis suppurativa
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant presenilin 1 increases the expression and activity of BACE1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Endocrine basis for the clinical presentation of hidradenitis suppurativa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The presenilins and Alzheimer's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The prevalence of hidradenitis suppurativa and its potential precursor lesions.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetics. Gamma-secretase and human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Notch1 is a p53 target gene involved in human keratinocyte tumor suppression through negative regulation of ROCK1/2 and MRCKalpha kinases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel mutations of the nicastrin gene in Chinese patients with acne inversa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epidermal growth factor receptor and notch pathways participate in the tumor suppressor function of gamma-secretase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Stimulation of human epidermal differentiation by delta-notch signalling at the boundaries of stem-cell clusters.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased serum tumour necrosis factor-alpha in hidradenitis suppurativa patients: is there a basis for treatment with anti-tumour necrosis factor-alpha agents?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
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inferred from DOI database lookup
Hidradenitis suppurativa markedly decreases quality of life and professional activity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nicastrin Mutations in French Families with Hidradenitis Suppurativa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aph-1 contributes to the stabilization and trafficking of the gamma-secretase complex through mechanisms involving intermolecular and intramolecular interactions.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
p300 acts as a transcriptional coactivator for mammalian Notch-1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
gamma-secretase functions through Notch signaling to maintain skin appendages but is not required for their patterning or initial morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
REVIEW: γ-Secretase inhibitors for the treatment of Alzheimer's disease: The current state.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Length and overall sequence of the PEN-2 C-terminal domain determines its function in the stabilization of presenilin fragments
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired notch signaling promotes de novo squamous cell carcinoma formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional consequences of NOD2/CARD15 mutations in Crohn disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dissociation between the processivity and total activity of γ-secretase: implications for the mechanism of Alzheimer's disease-causing presenilin mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence and factors associated with hidradenitis suppurativa: results from two case-control studies.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gamma-secretase activity is associated with a conformational change of nicastrin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and function of gamma-secretase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Elevated levels of tumour necrosis factor (TNF)-α, interleukin (IL)-1β and IL-10 in hidradenitis suppurativa skin: a rationale for targeting TNF-α and IL-1β
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hidradenitis suppurativa and inflammatory bowel disease: are they associated? Results of a pilot study.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical genetics of hidradenitis suppurativa revisited
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gamma-secretase gene mutations in familial acne inversa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epidermal Notch signalling: differentiation, cancer and adhesion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lymph nodes in hidradenitis suppurativa
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hidradenitis suppurativa: a disease of follicular epithelium, rather than apocrine glands
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FJID.2012.372
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/JID.2012.372
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Dimensions Publication ID
1051445662
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PubMed publication ID
23096707
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PubMed
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